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How many people have Barth Syndrome in the US?
People, mostly males, has barth syndrome. Barth Syndrome affected 200,000 male infants.
The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria. Matthew J. Toth Science Director Barth Syndrome Foundation, Inc.
What gene or chromosome is affected by noonan syndrome?
Noonan syndrome is primarily caused by mutations in the PTPN11 gene, located on chromosome 12. This gene provides instructions for making a protein involved in cell signaling and development. Changes in this gene can disrupt normal cell signaling pathways and lead to the characteristic features of Noonan syndrome.
What is the genetic trace of 'CHARGE' syndrome?
Charge syndrome is genetic. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. This syndrome is a common cause of congenital anomalies affecting several tissues in nonrandom fashion. Some research has been shown that detected mutations are in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome that didn't have microdeletions, accounting for the disease in most affected individuals.
What chromosome is gene located for marfan syndrome?
The gene associated with Marfan syndrome is located on chromosome 15. It is called the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Mutations in this gene can lead to the characteristic features of Marfan syndrome.
How many people have Barth Syndrome in the US?
People, mostly males, has barth syndrome. Barth Syndrome affected 200,000 male infants.
The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria. Matthew J. Toth Science Director Barth Syndrome Foundation, Inc.
When was Gene Barth born?
Gene Barth was born in 1930.
When did Gene Barth die?
Gene Barth died in 1991.
What are three special interest groups that focus on barth syndrome?
There appears to be only one special interest group that has its focus on Barth syndrome--Barth Syndrome Foundation, Inc. The website for this non-profit organization is: www.barthsyndrome.org . There are several international affiliates of the BSF: The Barth Syndrome Trust (UK & Europe), Barth Syndrome Foundation of Canada, and Barth Trust of South Africa. Sincerely, Matt Toth
What gene or chromosome is affected by down syndrome?
Chromosome 21 is tripled in Down syndrome.
What gene is affected in prader willi syndrome?
if you mean chromosome its the 15th......
How did Barth syndrome get its name?
Barth syndrome is named after the pediatric cardiologist Peter G. Barth, who first described the condition in 1983. He observed several boys with a distinct set of symptoms including cardiomyopathy, muscle weakness, growth delay, and neutropenia, leading to the recognition of the syndrome that bears his name.
What gene or chromosome is affected by noonan syndrome?
Noonan syndrome is primarily caused by mutations in the PTPN11 gene, located on chromosome 12. This gene provides instructions for making a protein involved in cell signaling and development. Changes in this gene can disrupt normal cell signaling pathways and lead to the characteristic features of Noonan syndrome.
What does Barth syndrome mean?
It is a genetically-linked cardiac disease
How do you get barth syndrome?
Barth's Syndrome is not something you get from a virus or a bacteria. It is genetic, on the X chromozome. It means that a women is mostly only a carrier, and when a carrier woman marries a amn, 50% of their boys will have Barth's Syndrome and 50% of their girls will be carriers. All the other boys and girls will be healthy. Have good health, harhanegev@gmail.com
If you have Andersen's syndrome what are the chances that your two children will have it?
Andersen's syndrome is usually inherited in an autosomal dominant fashion. This means that EACH child of a person with Andersen's syndrome will have a 50% chance of inheriting the gene associated with the syndrome. However, not all people who inherit the gene will show symptoms of the syndrome. Children of people affected with Andersen's syndrome should be evaluated by a qualified physician to determine risk.
